Publications by authors named "Ali A Elhassan"
PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homozygous mutations in this gene are associated with an early onset of symptoms. Bradykinesia, tremors, and rigidity are common features, while dystonia, motor fluctuation, and non-motor symptoms occur in a lower percentage of cases and usually respond well to levodopa.
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- The text discusses hereditary spinocerebellar degenerations (SCDs), which are genetic disorders affecting movement and coordination, including conditions like hereditary spastic paraplegia and cerebellar ataxia.
- Researchers studied 90 Sudanese patients from 38 families using advanced genetic techniques and found that a significant portion (63-73%) received genetic diagnoses, often with childhood-onset symptoms.
- The study highlights the genetic diversity of the Sudanese population and the challenges in identifying causative genes, suggesting a potential for discovering new genes related to SCDs in this group.
Background: Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson's disease (PD) pathogenicity. As of yet, only very few studies have been carried out in this field in Africa and none in Sudan.
Materials And Methods: We collected DNA from 172 Sudanese individuals (90 cases, 82 controls) who donated saliva for DNA extraction (mean age of onset: 40.